论文信息 - Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum. - 字舞流文

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.

B. Loeys | H. Hove | B. Diness | N. Bolar | A. Verstraeten | I. Luyckx

[1] G. Costain,et al. Genome-wide sequencing expands the phenotypic spectrum of EP300 variants. , 2017, European journal of medical genetics.

[2] B. D. de Vries,et al. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations , 2016, American journal of medical genetics. Part A.